【作者】 思远；

【导师】 严煜林；

【作者基本信息】 广西医科大学 ， 皮肤性病学， 2012， 硕士

【摘要】 目的：研究广西汉族多发性肌炎/皮肌炎(PM/DM)与HLA-DQA1.-DQB1等位基因的相关性。方法：采用聚合酶链反应-序列特异性引物(Polymerase chain reaction-special sequence primers,PCR-SSP)的方法,对广西地区汉族53例PM/DM患者和汉族100例健康对照者进行HLA-DQA110个、-DQB15个等位基因分型。结果：1.HLA-DQA1等位基因频率分布PM/DM患者组中,检出10个等位基因,基因频率范围为0.057～0.340。其中,DQA1*0101、*0102、*0302等位基因频率较高(分别为0.340、0.255.0.226),DQA1*0201、*0501、*0601等位基因频率较低(分别为0.057、0.094、0.057)。对照组中,检出10个等位基因,基因频率范围为0.015～0.260。其中,DQA1*0101、*0102、*0104、*0302等位基因频率较高(分别为0.260、0.215、0.240),DQA1*0103、*0302、*0601等位基因频率较低(分别为0.065、0.015、0.035、0.060)。2.HLA-DQB1等位基因频率分布PM/DM患者组中,检出5个等位基因,基因频率范围为0.009～0.123。其中DQB1*0301等位基因的频率较高(为0.094),DQB1*0201、*0401频率较低(为0.047、0.019)。对照组中,检出4个等位基因,基因频率范围为0.000～0.095。其中DQB1*0301等位基因的频率较高(为0.085),DQB1*0501、*0601频率较低(分别为0.070、0.055)。3.HLA-DQA1、-DQB1等位基因频率比较PM/DM患者组与正常对照组比较,PM/DM患者组HLA-DQA1*0302、*0401等位基因频率呈显著增高,差异有显著性(OR值分别为26.759、5.244；P值分别为0.000、0.000,校正Pc值分别为0.000,0.004)。而等位基因HLA-DQA1*0201.*0501频率降低(OR值分别为0.328、0.413；P值分别为(0.018、0.028),但校正Pc>0.05,无统计学意义。4.伴间质性肺炎组HLA-DQA1、-DQB1等位基因分布4.1PM/DM伴间质性肺炎患者组中,HLA-DQA1检出9个等位基因,基因频率范围为0.026～0.395。其中DQA1*0102、*0104、*0401等位基因的频率较高(分别为0.211、0.237、0.237),DQA1*0103、*0501频率较低(分别为0.079、0.079),DQA1*0201未检出。4.2PM/DM伴间质性肺炎患者组中,HLA-DQB1检出5个等位基因,基因频率范围为0.026-0.132。其中DQB1*0201/、*0301等位基因的频率较高(分别为0.053、0.053),DQB1*0401、*0501频率较低(分别为0.026、0.026)。5.不伴间质性肺炎组HLA-DQA1、-DQB1等位基因分布5.1PM/DM不伴间质性肺炎患者组中,HLA-DQA1检出10个等位基因,基因频率范围为0.074～0.309。其中DQA1*0102、*0302等位基因的频率较高(分别为0.279、0.279),DQA1*0201、*0401频率较低(分别为0.088、0.088)。5.2PM/DM不伴间质性肺炎患者组中,HLA-DQB1检出4个等位基因,基因频率范围为0.015-0.118。其中DQB1*0301、*0601等位基因的频率较高(分别为0.118、0.118),DQB1*0201频率较低(为0.044),DQB1*0401未检出。6.伴间质性肺炎组和不伴间质性肺炎组HLA-DQA1、-DQB1等位基因分布比较PM/DM患者伴间质性肺炎组等位基因HLA-DQA1*0302、*401频率明显高于正常对照组(OR值分别为11.548、11.957；P值分别为0.003、0.000,校正Pc值分别为0.026、0.000)。与正常对照组比较,PM/DM患者不伴间质性肺炎组等位基因HLA-DQA1*0302频率明显增高(OR=40.956,P=0.000, Pc=0.000),而等位基因HLA-DQB1*0501频率呈降低趋势(P=0.021),但校正Pc>0.05,无统计学意义。结论：等位基因HLA-DQA1*0302、*0401可能是广西地区汉族PM/DM患者的易感基因。HLA-DQA1*0401可能是广西地区汉族PM/DM患者伴间质性肺炎的危险基因。更多还原

【Abstract】 Objective:To investigate the genetic susceptibility of HLA-DQA1,-DQB1alleles to polymyositis/dermatomyositis in Chinese hans from guangxi area around.Methods:53patients with polymyositis/dermatomyositis and100healthy controls were examined for genotypes, HLA-DQA1,-DQB1allele typing was carried out using the polymerase reaction-sequence specific primers PCR (PCR-SSP).Results:1. HLA-DQA1allele frequency distributionPM/DM patients group were detected10alleles, the gene frequency range of0.057-0.340. Among them, the DQA1*0101,*0102,*0302allele frequency was higher (0.340,0.255,0.226), DQA1*0201,*0501,*0601allele frequency was lower (respectively0.057,0.094,0.057). Control group were detected10alleles in the gene frequency range of0.015to0.260. Among them, the DQA1*0101,*0102,*0104,*0302allele frequency was higher (0.260,0.215,0.240), DQA1*0103,*0302,*0601allele frequency was lower (0.065,0.015,0.035,0.060). 2. HLA-DQB1allele frequenciesPM/DM patients group were detected five alleles, the gene frequency range of0.009to0.123. DQB1*0301allele frequency was higher (0.094), DQB1*0201,*0401frequency is low (0.047,0.019). The control group, were detected in the4alleles, gene frequency range of0.000to0.095. DQB1*0301allele frequency was higher (0.085), DQB1*0501,*0601frequency is lower (0.070,0.055).3. HLA-DQA1,-DQB1alleles frequencyPM/DM patients group and normal control group, the PM/DM patients group of HLA-DQA1*0302,*0401allele frequency was significantly increased, the difference was significant (OR values were26.759,5.244; P values were0.000correction Pc value were0.000,0.000,0.004). Alleles of HLA-DQA1*0201,*0501frequency is reduced (OR value to0.328,0.413;P values were0.018,0.028), but the correction to the Pc>0.05, not statistically significant.4. With interstitial pneumonia group, HLA-DQA1,-DQB1alleles distribution4.1PM/DM with interstitial pneumonia patient group, the HLA-DQA1were detected in9alleles, gene frequency range of0.026-0.395. DQA1*0102,*0104,*0401allele frequency was higher (0.211,0.237,0.237), DQA1*0103,*0501frequency was lower (0.079,0.079) of DQA1*0201is not seized out.4.2PM/DM with interstitial pneumonia patient group, the HLA-DQB1were detected five alleles, the gene frequency range of0.026-0.132. DQB1*0201,*0301allele frequency was higher (for the0.053,0.053), DQB1*0401,*0501frequency is lower (0.026,0.026).5. Without interstitial pneumonia group, HLA-DQA1,-DQB1alleles distribution5.1PM/DM without interstitial pneumonia patient group, the HLA-DQA1were detected in10alleles, gene frequency range from0.074to0.309, Which DQA1*0102,*0302allele frequency was higher (for the0.279,0.279), DQA1*0201,*0401frequency was lower (respectively, are0.088,0.088).5.2PM/DM without interstitial pneumonia patient group, the HLA-DQB1were detected in the4alleles, gene frequency range of0.015to0.118. DQB1*0301,*0601allele frequency was higher (for the0.118,0.118), DQB1*0201frequency was lower (0.044), DQB1*0401were not detected.6. With interstitial pneumonia group and without interstitial pneumonia group, HLA-DQA1,-DQB1alleles distributionPM/DM patients with interstitial pneumonia group alleles of HLA-DQA1*0302,*0401frequency was significantly higher than the heathy control group (OR=11.548,11.957; P values were0.003,0.000; correction Pc values were0.026,0.000). Compared with the normal control group, the PM/DM patients with interstitial pneumonia group of alleles of HLA-DQA1*0302frequency was significantly higher (OR=40.956, P=0.000, Pc=0.000), while the alleles of HLA-DQB1*0501frequency was decreased (P=0.021), but correction Pc>0.05, not statistically significant.Conclusion:Alleles of HLA-DQA1*0302,*0401have a significant genetic correlation with PM/DM, HLA-DQA1*0302,*0401with PM/DM were susceptibility genes in Guangxi Han patients with or without interstitial pneumonia may have different genetic immunological background. HLA-DQA1*0401may be dangerous gene of Han nationality in Guangxi region associated interstitial pneumonia in PM/DM patients.更多还原